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NM_000023.4(SGCA):c.861G>A (p.Leu287=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 15, 2018
Accession:
VCV000512160.1
Variation ID:
512160
Description:
single nucleotide variant
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NM_000023.4(SGCA):c.861G>A (p.Leu287=)

Allele ID
506489
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.33
Genomic location
17: 50170256 (GRCh38) GRCh38 UCSC
17: 48247617 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.48247617G>A
NC_000017.11:g.50170256G>A
NM_000023.4:c.861G>A MANE Select NP_000014.1:p.Leu287= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:50170255:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA500829686
dbSNP: rs1555569293
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 21, 2017 RCV000614050.1
Uncertain significance 1 criteria provided, single submitter Jun 15, 2018 RCV000733792.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGCA - - GRCh38
GRCh37
405 418

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000723006.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Jun 15, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861891.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGCA - - - -

Text-mined citations for rs1555569293...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Feb 27, 2021